Phenotypes associated with this allele

• Allele Symbol: Scn8a^med-jo
• Allele Name: jolting
• Allele ID: MGI:1856080
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^med-jo/Scn8a^med-jo	DBA/2WyDi-Scn8a^med-jo	MGI:3818087
ht2	Scn8a^med-jo/Scn8a^+	B6.D2-Scn8a^med-jo/J	MGI:3818173
cx3	Scn1a^tm1Wac/Scn1a^tm1Wac Scn8a^med-jo/Scn8a^+	involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ	MGI:3818177
cx4	Scn1a^tm1Wac/Scn1a^+ Scn8a^med-jo/Scn8a^+	involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ	MGI:3818178
cx5	Scn1a^tm1.1Aesc/Scn1a^+ Scn8a^med-jo/Scn8a^+	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi	MGI:4950074
cx6	Scn1a^tm1.1Aesc/Scn1a^tm1.1Aesc Scn8a^med-jo/Scn8a^+	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi	MGI:4950075

Genotype
MGI:3818087

hm1

• Allelic Composition: Scn8a^med-jo/Scn8a^med-jo
• Genetic Background: DBA/2WyDi-Scn8a^med-jo

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

tremors ( J:15056 )

• mice exhibit shivering or quaking in the anterior portion of the body

impaired limb coordination ( J:15056 )

• hind limb

muscle

muscle phenotype ( J:24907 )

N • skeletal musculature is normal

nervous system

nervous system phenotype ( J:24907 )

N • peripheral nerves are normal

Purkinje cell degeneration ( J:14894 )

• at 6 months of age, mice exhibit a progressive loss of Purkinje cells in the vermis and medial portion of the cerebellar hemisphere

abnormal nervous system electrophysiology ( J:14894 )

• between 1 and 9 months of age, cells within the Purkinje cell layer exhibit reduced spontaneous activity compared to in wild-type mice

Genotype
MGI:3818173

ht2

• Allelic Composition: Scn8a^med-jo/Scn8a⁺
• Genetic Background: B6.D2-Scn8a^med-jo/J

behavior/neurological

decreased susceptibility to pharmacologically induced seizures ( J:129998 , J:170734 )

• following exposure to flurothyl, mice exhibit a 31% increase in latency to myoclonic jerk and a 55% increase in latency to generalized tonic-clonic seizure compared to in similarly treated wild-type mice (J:129998)

• following exposure to kainic acid, mice exhibit reduced GTCS compared to similarly treated wild-type mice (J:129998)

• average latency to flurothyl-induced generalized tonic-clonic seizures is 30% longer than in wild-type mice, indicating increased resistance to flurothyl-induced seizures (J:170734)

abnormal spike wave discharge ( J:147199 )

• mice exhibit spike wave discharge (SWD) accompanied by behavior arrest unlike wild-type mice

• the average incidence of SWD is lower than in Scn8a^med heterozygotes

nervous system

decreased susceptibility to pharmacologically induced seizures ( J:129998 , J:170734 )

• following exposure to flurothyl, mice exhibit a 31% increase in latency to myoclonic jerk and a 55% increase in latency to generalized tonic-clonic seizure compared to in similarly treated wild-type mice (J:129998)

• following exposure to kainic acid, mice exhibit reduced GTCS compared to similarly treated wild-type mice (J:129998)

• average latency to flurothyl-induced generalized tonic-clonic seizures is 30% longer than in wild-type mice, indicating increased resistance to flurothyl-induced seizures (J:170734)

abnormal spike wave discharge ( J:147199 )

• mice exhibit spike wave discharge (SWD) accompanied by behavior arrest unlike wild-type mice

• the average incidence of SWD is lower than in Scn8a^med heterozygotes

Genotype
MGI:3818177

cx3

• Allelic Composition: Scn1a^tm1Wac/Scn1a^tm1Wac; Scn8a^med-jo/Scn8a⁺
• Genetic Background: involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ

mortality/aging

postnatal lethality, complete penetrance ( J:129998 )

• some mice survive beyond P15 but die by P18

Genotype
MGI:3818178

cx4

• Allelic Composition: Scn1a^tm1Wac/Scn1a⁺; Scn8a^med-jo/Scn8a⁺
• Genetic Background: involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ

mortality/aging

mortality/aging ( J:129998 )

N • mice exhibit no abnormal lethality through P150

nervous system

nervous system phenotype ( J:129998 )

N • mice exhibit a normal threshold to flurothyl-induced generalized tonic-clonic seizure

abnormal spike wave discharge ( J:129998 )

• unlike Scn1a^tm1Wac heterozygotes, mice exhibit brief spike wave discharges associated with behavioral arrest that are not accompanied by behavioral components

behavior/neurological

abnormal spike wave discharge ( J:129998 )

• unlike Scn1a^tm1Wac heterozygotes, mice exhibit brief spike wave discharges associated with behavioral arrest that are not accompanied by behavioral components

Genotype
MGI:4950074

cx5

• Allelic Composition: Scn1a^tm1.1Aesc/Scn1a⁺; Scn8a^med-jo/Scn8a⁺
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi

behavior/neurological

behavior/neurological phenotype ( J:170734 )

N • average latency to flurothyl-induced generalized tonic-clonic seizures is 50% longer when compared to single heterozygous Scn1a mice, but no different from wild-type indicating that seizure thresholds are restored to normal levels

Genotype
MGI:4950075

cx6

• Allelic Composition: Scn1a^tm1.1Aesc/Scn1a^tm1.1Aesc; Scn8a^med-jo/Scn8a⁺
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi

mortality/aging

decreased survivor rate ( J:170734 )

• 47% of mutants survive for over 100 days

postnatal lethality, incomplete penetrance ( J:170734 )

• 25% mortality at P25